A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2283746



Internal ID17880810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75346016..75619904hg38UCSC Ensembl
Innerchr3:75395167..75669055hg19UCSC Ensembl
Innerchr3:75477857..75751745hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38273889
hg19273889
hg18273889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965176
Supporting Variants
SamplesHGDP01307
Known GenesFAM86DP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2283746
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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